Visualization of regulatory element with DNMs in transcripts


Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.
Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000220597 [[81880044, 81889141], [81892669, 81892729], [81897010, 81897612], [81899604, 81899701], [81903713, 81903765], [81905337, 81905542], [81942230, 81942324], [81982346, 81982405], [82023825, 82024303]] [[81888778, 81889141], [81892669, 81892729], [81897010, 81897612], [81899604, 81899701], [81903713, 81903765], [81905337, 81905462]]
ENST00000523463 [[81882525, 81883142], [81887756, 81888015]] None
ENST00000522811 [[81897462, 81897612], [81899604, 81899769]] None
ENST00000519326 [[81942025, 81942324], [81982346, 81982411]] None
NM_018440 [[81880044, 81889141], [81892669, 81892729], [81897010, 81897612], [81899604, 81899701], [81903713, 81903765], [81905337, 81905542], [81942230, 81942324], [81982346, 81982405], [82023825, 82024303]] [[81888778, 81889141], [81892669, 81892729], [81897010, 81897612], [81899604, 81899701], [81903713, 81903765], [81905337, 81905462]]
Promoter
Chrom Start End Description
chr8 82024290 82024310 CAGE_peak_1_at_PAG1_5end
chr8 82024345 82024356 CAGE_peak_2_at_PAG1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I081047 81047506 81048731 0.86 [{'connected_gene': 'SNX16', 'score': 5.49}, {'connected_gene': 'ZBTB10', 'score': 4.76}, {'connected_gene': 'ENSG00000254060', 'score': 0.39}, {'connected_gene': 'ENSG00000254177', 'score': 0.39}, {'connected_gene': 'PAG1', 'score': 0.21}]
chr8 GH08I081049 81049691 81052510 1.5 [{'connected_gene': 'PAG1', 'score': 12.76}, {'connected_gene': 'ZBTB10', 'score': 4.92}, {'connected_gene': 'ENSG00000254177', 'score': 0.44}, {'connected_gene': 'ENSG00000254060', 'score': 0.39}]
chr8 GH08I081080 81080437 81081200 0.6 [{'connected_gene': 'PAG1', 'score': 11.85}, {'connected_gene': 'SNX16', 'score': 6.61}, {'connected_gene': 'ENSG00000254177', 'score': 0.34}]
chr8 GH08I081021 81021402 81022600 0.83 [{'connected_gene': 'PAG1', 'score': 11.33}, {'connected_gene': 'ENSG00000254060', 'score': 0.39}, {'connected_gene': 'ZNF704', 'score': 0.11}]
chr8 GH08I081004 81004601 81005200 0.62 [{'connected_gene': 'PAG1', 'score': 10.76}, {'connected_gene': 'ENSG00000254060', 'score': 0.29}, {'connected_gene': 'ZNF704', 'score': 0.12}]
chr8 GH08I081001 81001597 81003400 1.25 [{'connected_gene': 'PAG1', 'score': 13.07}, {'connected_gene': 'ENSG00000254060', 'score': 0.29}, {'connected_gene': 'ZNF704', 'score': 0.13}]
chr8 GH08I081014 81014801 81015000 0.31 [{'connected_gene': 'PAG1', 'score': 11.32}, {'connected_gene': 'ENSG00000254060', 'score': 0.34}, {'connected_gene': 'ZNF704', 'score': 0.11}]
chr8 GH08I080999 80998735 80999890 0.52 [{'connected_gene': 'PAG1', 'score': 10.56}, {'connected_gene': 'ENSG00000254060', 'score': 0.28}, {'connected_gene': 'ZNF704', 'score': 0.13}]
chr8 GH08I081022 81022801 81023000 0.51 [{'connected_gene': 'PAG1', 'score': 11.34}, {'connected_gene': 'ENSG00000254060', 'score': 0.39}, {'connected_gene': 'ZNF704', 'score': 0.11}]
chr8 GH08I081011 81011164 81011439 0.45 [{'connected_gene': 'PAG1', 'score': 12.92}, {'connected_gene': 'ENSG00000254060', 'score': 0.31}, {'connected_gene': 'ZNF704', 'score': 0.12}]
chr8 GH08I080981 80981602 80981887 0.69 [{'connected_gene': 'PAG1', 'score': 4.23}, {'connected_gene': 'ENSG00000254060', 'score': 0.22}, {'connected_gene': 'ZNF704', 'score': 0.14}]
chr8 GH08I081018 81018445 81018674 0.4 [{'connected_gene': 'PAG1', 'score': 13.56}, {'connected_gene': 'ENSG00000254060', 'score': 0.37}, {'connected_gene': 'ZNF704', 'score': 0.11}]
chr8 GH08I081146 81146959 81150629 1.32 [{'connected_gene': 'PAG1', 'score': 16.46}, {'connected_gene': 'LOC105375924', 'score': 14.76}, {'connected_gene': 'PMP2', 'score': 2.23}, {'connected_gene': 'ZNF704', 'score': 1.78}, {'connected_gene': 'GC08M081130', 'score': 0.37}]
chr8 GH08I081191 81191045 81195736 1.04 [{'connected_gene': 'PAG1', 'score': 14.93}, {'connected_gene': 'LOC105375924', 'score': 6.46}, {'connected_gene': 'IMPA1', 'score': 4.15}, {'connected_gene': 'GC08M081170', 'score': 0.34}, {'connected_gene': 'ENSG00000254014', 'score': 0.23}]
chr8 GH08I081229 81229852 81230996 0.6 [{'connected_gene': 'PAG1', 'score': 11.0}, {'connected_gene': 'LOC105375924', 'score': 5.74}, {'connected_gene': 'ENSG00000254014', 'score': 0.39}, {'connected_gene': 'GC08M081170', 'score': 0.22}]
chr8 GH08I081226 81226570 81228345 0.77 [{'connected_gene': 'PAG1', 'score': 15.2}, {'connected_gene': 'LOC105375924', 'score': 5.72}, {'connected_gene': 'ENSG00000254014', 'score': 0.37}, {'connected_gene': 'GC08M081170', 'score': 0.22}]
chr8 GH08I081188 81188271 81189077 0.31 [{'connected_gene': 'PAG1', 'score': 14.43}, {'connected_gene': 'LOC105375924', 'score': 7.29}, {'connected_gene': 'GC08M081170', 'score': 0.37}, {'connected_gene': 'ENSG00000254014', 'score': 0.22}]
chr8 GH08I081233 81233292 81235515 0.99 [{'connected_gene': 'PAG1', 'score': 15.13}, {'connected_gene': 'LOC105375924', 'score': 5.72}, {'connected_gene': 'ENSG00000254014', 'score': 0.44}, {'connected_gene': 'GC08M081170', 'score': 0.21}]
chr8 GH08I081145 81145112 81146272 0.2 [{'connected_gene': 'PAG1', 'score': 12.34}, {'connected_gene': 'LOC105375924', 'score': 10.83}, {'connected_gene': 'GC08M081130', 'score': 0.39}]
chr8 GH08I081138 81138693 81139573 0.2 [{'connected_gene': 'PAG1', 'score': 11.97}, {'connected_gene': 'GC08M081130', 'score': 0.44}, {'connected_gene': 'LOC105375924', 'score': 0.39}]
chr8 GH08I081187 81187146 81187295 0.38 [{'connected_gene': 'PAG1', 'score': 9.83}, {'connected_gene': 'GC08M081170', 'score': 0.37}, {'connected_gene': 'LOC105375924', 'score': 0.29}, {'connected_gene': 'ENSG00000254014', 'score': 0.22}]
chr8 GH08I081069 81069182 81070555 0.51 [{'connected_gene': 'PAG1', 'score': 10.62}, {'connected_gene': 'LOC105375924', 'score': 4.76}, {'connected_gene': 'ENSG00000254177', 'score': 0.39}]
chr8 GH08I081189 81189399 81189784 0.38 [{'connected_gene': 'PAG1', 'score': 9.71}, {'connected_gene': 'GC08M081170', 'score': 0.37}, {'connected_gene': 'LOC105375924', 'score': 0.28}, {'connected_gene': 'ENSG00000254014', 'score': 0.23}]
chr8 GH08I081105 81105299 81113425 2.34 [{'connected_gene': 'PAG1', 'score': 560.2}, {'connected_gene': 'LOC105375924', 'score': 7.56}, {'connected_gene': 'ENSG00000254177', 'score': 0.23}]
chr8 GH08I081215 81215913 81217442 0.57 [{'connected_gene': 'PAG1', 'score': 10.63}, {'connected_gene': 'ENSG00000254014', 'score': 0.31}, {'connected_gene': 'GC08M081170', 'score': 0.25}, {'connected_gene': 'LOC105375924', 'score': 0.21}]
chr8 GH08I081142 81142762 81143861 0.31 [{'connected_gene': 'PAG1', 'score': 12.35}, {'connected_gene': 'LOC105375924', 'score': 12.18}, {'connected_gene': 'GC08M081130', 'score': 0.39}]
chr8 GH08I081140 81140204 81141800 0.96 [{'connected_gene': 'PAG1', 'score': 12.36}, {'connected_gene': 'LOC105375924', 'score': 0.39}, {'connected_gene': 'GC08M081130', 'score': 0.39}]
chr8 GH08I081081 81081485 81081691 0.54 [{'connected_gene': 'PAG1', 'score': 27.42}, {'connected_gene': 'ENSG00000254177', 'score': 0.34}]
chr8 GH08I081067 81067298 81067855 0.4 [{'connected_gene': 'PAG1', 'score': 11.1}, {'connected_gene': 'ENSG00000254177', 'score': 0.44}]
chr8 GH08I081066 81066001 81066200 0.4 [{'connected_gene': 'PAG1', 'score': 11.08}, {'connected_gene': 'ENSG00000254177', 'score': 0.44}]
chr8 GH08I081074 81073611 81073635 0.51 [{'connected_gene': 'PAG1', 'score': 10.63}, {'connected_gene': 'ENSG00000254177', 'score': 0.37}]
chr8 GH08I081113 81113766 81113915 0.58 [{'connected_gene': 'PAG1', 'score': 550.77}, {'connected_gene': 'GC08M081130', 'score': 0.37}]
chr8 GH08I081059 81059930 81064537 0.52 [{'connected_gene': 'PAG1', 'score': 6.05}, {'connected_gene': 'ENSG00000254177', 'score': 0.77}]
chr8 GH08I081073 81073697 81077656 1.12 [{'connected_gene': 'PAG1', 'score': 21.01}, {'connected_gene': 'ENSG00000254177', 'score': 0.37}]
chr8 GH08I081096 81096240 81100292 1.07 [{'connected_gene': 'PAG1', 'score': 10.78}, {'connected_gene': 'ENSG00000254177', 'score': 0.28}]
chr8 GH08I081114 81114650 81118571 0.86 [{'connected_gene': 'PAG1', 'score': 0.77}, {'connected_gene': 'GC08M081130', 'score': 0.39}]
chr8 GH08I081072 81072326 81072402 0.4 [{'connected_gene': 'PAG1', 'score': 10.63}, {'connected_gene': 'ENSG00000254177', 'score': 0.39}]
chr8 GH08I081088 81088776 81091386 1.29 [{'connected_gene': 'PAG1', 'score': 21.96}, {'connected_gene': 'ENSG00000254177', 'score': 0.29}]
chr8 GH08I081103 81103646 81103815 0.4 [{'connected_gene': 'PAG1', 'score': 0.44}, {'connected_gene': 'ENSG00000254177', 'score': 0.25}]
chr8 GH08I081082 81082401 81082600 0.51 [{'connected_gene': 'PAG1', 'score': 11.87}, {'connected_gene': 'ENSG00000254177', 'score': 0.34}]
chr8 GH08I081092 81092073 81095973 1.02 [{'connected_gene': 'PAG1', 'score': 9.84}, {'connected_gene': 'ENSG00000254177', 'score': 0.28}]
chr8 GH08I081071 81071386 81071535 0.63 [{'connected_gene': 'PAG1', 'score': 10.62}, {'connected_gene': 'ENSG00000254177', 'score': 0.39}]
chr8 GH08I081290 81290678 81291972 1.07 [{'connected_gene': 'PMP2', 'score': 10.14}, {'connected_gene': 'PAG1', 'score': 1.67}, {'connected_gene': 'ENSG00000254027', 'score': 0.44}, {'connected_gene': 'LOC105375925', 'score': 0.26}]
chr8 GH08I080972 80972166 80972315 0.31 [{'connected_gene': 'RNU11-6P', 'score': 9.7}, {'connected_gene': 'ENSG00000254060', 'score': 0.21}, {'connected_gene': 'ZNF704', 'score': 0.15}, {'connected_gene': 'PAG1', 'score': 0.12}]
chr8 GH08I080864 80864499 80865368 1.39 [{'connected_gene': 'RNU11-6P', 'score': 10.06}, {'connected_gene': 'PAG1', 'score': 4.29}, {'connected_gene': 'ZNF704', 'score': 2.75}, {'connected_gene': 'ZBTB10', 'score': 1.49}, {'connected_gene': 'HMGB1P41', 'score': 0.23}]
chr8 GH08I080916 80916967 80920177 1.1 [{'connected_gene': 'RNU11-6P', 'score': 9.92}, {'connected_gene': 'PAG1', 'score': 4.68}, {'connected_gene': 'ZNF704', 'score': 4.59}, {'connected_gene': 'ZBTB10', 'score': 1.26}, {'connected_gene': 'ENSG00000254060', 'score': 0.13}]
chr8 GH08I080973 80972319 80973115 0.38 [{'connected_gene': 'RNU11-6P', 'score': 9.7}, {'connected_gene': 'PAG1', 'score': 4.18}, {'connected_gene': 'ENSG00000254060', 'score': 0.21}, {'connected_gene': 'ZNF704', 'score': 0.15}]
chr8 GH08I081161 81161000 81161601 0.84 [{'connected_gene': 'LOC105375924', 'score': 11.81}, {'connected_gene': 'PAG1', 'score': 2.18}, {'connected_gene': 'GC08M081156', 'score': 0.77}, {'connected_gene': 'GC08M081170', 'score': 0.39}]
chr8 GH08I081104 81103819 81105200 1.1 [{'connected_gene': 'LOC105375924', 'score': 7.66}, {'connected_gene': 'PAG1', 'score': 6.38}, {'connected_gene': 'ENSG00000254177', 'score': 0.25}]
chr8 GH08I081152 81152663 81157934 1.22 [{'connected_gene': 'LOC105375924', 'score': 563.57}, {'connected_gene': 'GC08M081156', 'score': 550.77}, {'connected_gene': 'PAG1', 'score': 12.31}]
chr8 GH08I081127 81127221 81129232 0.31 [{'connected_gene': 'LOC105375924', 'score': 8.06}, {'connected_gene': 'GC08M081130', 'score': 0.77}, {'connected_gene': 'PAG1', 'score': 0.37}]
chr8 GH08I081122 81122017 81123256 0.57 [{'connected_gene': 'LOC105375924', 'score': 8.01}, {'connected_gene': 'GC08M081130', 'score': 0.44}, {'connected_gene': 'PAG1', 'score': 0.39}]
chr8 GH08I080991 80991011 80992570 0.91 [{'connected_gene': 'ENSG00000254060', 'score': 0.25}, {'connected_gene': 'ZNF704', 'score': 0.13}, {'connected_gene': 'PAG1', 'score': 0.13}]
chr8 GH08I080988 80988654 80989944 0.2 [{'connected_gene': 'ENSG00000254060', 'score': 0.25}, {'connected_gene': 'ZNF704', 'score': 0.14}, {'connected_gene': 'PAG1', 'score': 0.13}]
chr8 GH08I081034 81034286 81034395 0.51 [{'connected_gene': 'ENSG00000254060', 'score': 0.77}, {'connected_gene': 'PAG1', 'score': 0.18}, {'connected_gene': 'ZNF704', 'score': 0.1}]
chr8 GH08I080998 80998201 80998535 0.89 [{'connected_gene': 'ENSG00000254060', 'score': 0.28}, {'connected_gene': 'PAG1', 'score': 0.14}, {'connected_gene': 'ZNF704', 'score': 0.13}]
chr8 GH08I081027 81027593 81030242 1.3 [{'connected_gene': 'ENSG00000254060', 'score': 0.44}, {'connected_gene': 'PAG1', 'score': 0.18}, {'connected_gene': 'ZNF704', 'score': 0.1}]
chr8 GH08I081025 81025255 81027576 1.37 [{'connected_gene': 'ENSG00000272425', 'score': 9.81}, {'connected_gene': 'PAG1', 'score': 2.89}, {'connected_gene': 'ENSG00000254060', 'score': 0.39}, {'connected_gene': 'ZNF704', 'score': 0.1}]
chr8 GH08I081035 81034404 81038673 1.04 [{'connected_gene': 'ENSG00000254060', 'score': 550.77}, {'connected_gene': 'PAG1', 'score': 11.11}, {'connected_gene': 'RPSAP47', 'score': 4.33}, {'connected_gene': 'ZNF704', 'score': 0.1}]
chr8 GH08I081121 81121866 81122015 0.43 [{'connected_gene': 'GC08M081130', 'score': 0.44}, {'connected_gene': 'PAG1', 'score': 0.44}]
chr8 GH08I081064 81064757 81065800 0.8 [{'connected_gene': 'ENSG00000254177', 'score': 0.44}, {'connected_gene': 'PAG1', 'score': 0.25}]
chr8 GH08I081129 81129976 81133636 1.36 [{'connected_gene': 'GC08M081130', 'score': 550.77}, {'connected_gene': 'LOC105375924', 'score': 10.61}, {'connected_gene': 'PAG1', 'score': 8.36}]

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